RESUMEN
BACKGROUND: Oculo-auriculo-vertebral spectrum is a heterogeneous group of genetic disorder, also known as Goldenhar Syndrome, which has several phenotypic features including craniofacial anomalies, cardiac, vertebral and central nervous system defects. Cardiovascular anomalies include ventricular septal defects, atrial septal defects, patent ductus arteriosus, Tetralogy of Fallot, double outlet right ventricle, aberrant right subclavian artery, coarctation of aorta, transposition of the great arteries, double inlet left ventricle, cor triatriatum, pulmonary artery stenosis, aortic stenosis, persistent left superior vena cava, partially or totally abnormal pulmonary venous return and bicuspid aortic valve. Persistent fifth aortic arch, also named as double lumen aortic arch, is a very rare cardivascular anomaly and usually associate other cardiac defects. CASE PRESENTATION: We present a 7 month old patient with oculo-auriculo-vertebral spectrum signs as facial asymmetry, short neck, choanal atresia, cleft palate, bilateral preauricular skin tags, bilateral hypoplastic ear lobes, epibulbar dermoid cyst, rib, vertebrae and cardiovascular anomalies. Cardiovascular anomalies detected with echocardiography and computed tomography were malalignment ventricular septal defect and double lumen aorta, known as persistent fifth aortic arch. CONCLUSION: Various cardiovascular anomalies may accompany Goldenhar Syndrome. We present a case with persistent fifth aortic arch and Oculo-auriculo-vertebral spectrum and this is a new association that was not reported before in the literature.
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Anomalías Cardiovasculares , Síndrome de Goldenhar , Cardiopatías Congénitas , Defectos del Tabique Interventricular , Transposición de los Grandes Vasos , Aorta Torácica/anomalías , Aorta Torácica/diagnóstico por imagen , Anomalías Cardiovasculares/complicaciones , Anomalías Cardiovasculares/diagnóstico por imagen , Síndrome de Goldenhar/diagnóstico , Síndrome de Goldenhar/diagnóstico por imagen , Cardiopatías Congénitas/genética , Humanos , Lactante , Transposición de los Grandes Vasos/cirugía , Vena Cava SuperiorRESUMEN
OBJECTIVES: The aim of this study was to determine the effect of cystic fibrosis (CF) on pancreas and liver elasticity in young children using point shear wave elastography and to determine the relationship with clinical findings. METHODS: Twenty-two patients with genetically proven CF, who were admitted to our pediatric gastroenterology clinic, and 22 healthy control participants were enrolled in the study. The shear wave velocity (SWV) of the liver and pancreas were measured with point shear wave elastography. RESULTS: The 22 patients with CF included 45.5% girls with a mean age ± SD of 35 ± 35.8 months (range, 5-123 months). The 22 healthy control participants included 41.2% girls with a mean age of 58.9 ± 44.4 months (range, 2-159 months). The mean SWV of the pancreas in the patients with CF (1.06 ± 0.26 m/s) was significantly higher than that of the healthy control participants (0.85 ± 0.23 m/s; P = .01). The mean SWV of the liver in the patients with CF (1.46 ± 0.24 m/s) was significantly higher than that of the healthy control participants (1.12 ± 0.21 m/s; P = .001). The SWV of the pancreas and liver did not show any significant differences depending on ursodeoxycholic acid use, malnutrition status, and the presence of the F508 deletion mutation. CONCLUSIONS: This study showed an increased SWV of the pancreas in children with CF, contrary to the literature. We also found an increased liver SWV even in the absence of CF-related liver disease. Ultrasound elastography may be a useful method of evaluating early changes in the pancreas and liver before the obvious clinical, laboratory, and B-mode ultrasound signs of CF-related involvement.
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Fibrosis Quística , Diagnóstico por Imagen de Elasticidad , Hepatopatías , Niño , Preescolar , Fibrosis Quística/complicaciones , Fibrosis Quística/diagnóstico por imagen , Femenino , Humanos , Hígado/diagnóstico por imagen , Páncreas/diagnóstico por imagenRESUMEN
OBJECTIVES: To provide an initial assessment of white matter (WM) integrity with diffusion tensor imaging (DTI) and the accompanying volumetric changes in WM and grey matter (GM) through volumetric analyses of young children with Down's syndrome (DS). METHODS: Ten children with DS and eight healthy control subjects were included in the study. Tract-based spatial statistics (TBSS) were used in the DTI study for whole-brain voxelwise analysis of fractional anisotropy (FA) and mean diffusivity (MD) of WM. Volumetric analyses were performed with an automated segmentation method to obtain regional measurements of cortical volumes. RESULTS: Children with DS showed significantly reduced FA in association tracts of the fronto-temporo-occipital regions as well as the corpus callosum (CC) and anterior limb of the internal capsule (p < 0.05). Volumetric reductions included total cortical GM, cerebellar GM and WM volume, basal ganglia, thalamus, brainstem and CC in DS compared with controls (p < 0.05). CONCLUSION: These preliminary results suggest that DTI and volumetric analyses may reflect the earliest complementary changes of the neurodevelopmental delay in children with DS and can serve as surrogate biomarkers of the specific elements of WM and GM integrity for cognitive development. KEY POINTS: ⢠DS is the most common genetic cause of intellectual disability. ⢠WM and GM structural alterations represent the neurological features of DS. ⢠DTI may identify the earliest aging process changes. ⢠DTI-volumetric analyses can serve as surrogate biomarkers of neurodevelopment in DS.
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Encéfalo/diagnóstico por imagen , Imagen de Difusión Tensora/métodos , Síndrome de Down/diagnóstico , Preescolar , Cognición , Síndrome de Down/fisiopatología , Femenino , Humanos , Masculino , Tamaño de los Órganos , Sustancia Blanca/diagnóstico por imagenRESUMEN
OBJECTIVE: The aim of this study is to determine the effects of type 1 diabetes on pancreas and kidney elasticity in children, using acoustic radiation force impulse ultrasound elastography. SUBJECTS AND METHODS: Sixty autoantibody-positive patients with type 1 diabetes (45% girls; mean [± SD] age, 11.7 ± 4.4 years; range, 1.9-19.3 years) admitted to the pediatric endocrinology outpatient clinic and 32 healthy children (50% girls; mean age, 10.2 ± 3.8 years; range, 2.1-17.3 years) were included in the study. Acoustic radiation force impulse elastography measurements were performed of the kidneys and pancreas in both groups. Body mass index, duration of diabetes, HbA1c levels, and insulin dosage of patients with type 1 diabetes were recorded. RESULTS: The mean shear-wave velocities of the pancreas were 0.99 ± 0.25 m/s in patients with type 1 diabetes and 1.09 ± 0.22 m/s in healthy control subjects; the difference was not significant (p = 0.08). The median shear-wave velocities of the right and left kidneys in patients with type 1 diabetes were 2.43 ± 0.29 and 2.47 ± 0.25 m/s, respectively. There were no significant differences in the shear-wave velocities of the right and left kidneys between the patients with type 1 diabetes and the healthy control subjects (p = 0.91 and p = 0.73, respectively). Correlation analysis showed no correlation between the shear-wave velocities of the pancreas and kidney versus HbA1c level, duration of diabetes, insulin dosage, height, weight, and body mass index of the patients with type 1 diabetes. CONCLUSION: The current study showed no significant difference in the shear-wave velocity of kidneys in children with type 1 diabetes with normoalbuminuria compared with the healthy control subjects. We also observed that the shear-wave velocity of the pancreas in children with type 1 diabetes and healthy control subjects did not differ significantly.
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Diabetes Mellitus Tipo 1/complicaciones , Diabetes Mellitus Tipo 1/diagnóstico por imagen , Diagnóstico por Imagen de Elasticidad , Elasticidad , Riñón/diagnóstico por imagen , Páncreas/diagnóstico por imagen , Adolescente , Estudios de Casos y Controles , Niño , Preescolar , Diabetes Mellitus Tipo 1/fisiopatología , Femenino , Humanos , Lactante , Riñón/fisiopatología , Masculino , Páncreas/fisiopatología , Adulto JovenRESUMEN
OBJECTIVES: To evaluate renal parenchymal elasticity with acoustic radiation force impulse imaging in pediatric patients with chronic kidney disease (CKD) and compare with healthy volunteers. METHODS: Thirty-eight healthy volunteers and 30 pediatric CKD patients were enrolled in this prospective study. The shear wave velocity (SW) values of both kidneys in CKD patients and healthy volunteers were evaluated. RESULTS: The mean SW in healthy volunteers was 2.21 ± 0.34 m/s, whereas the same value was 1.81 ± 0.49, 1.72 ± 0.63, 1.66 ± 0.29, 1.48 ± 0.37, and 1.23 ± 0.27 for stages 1, 2, 3, 4, and 5 in CKD patients, respectively. The SW was significantly lower for each stage in the CKD patients compared with healthy volunteers. Acoustic radiation force impulse could not predict the different stages of CKD, with the exception of stage 5. The cut-off value for predicting CKD was 1.81 m/s; at this threshold, sensitivity was 76.5% and specificity was 92.1% (area under the curve = 0.870 [95% confidence interval: 0.750-0.990]; P < .001). Interobserver agreement expressed as intraclass coefficient correlation was 0.65 (95% confidence interval: 0.34 to 0.83; P < .001). CONCLUSIONS: Acoustic radiation force impulse may be a potentially useful tool in detecting CKD in pediatric patients.
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Diagnóstico por Imagen de Elasticidad/métodos , Insuficiencia Renal Crónica/diagnóstico por imagen , Insuficiencia Renal Crónica/fisiopatología , Adolescente , Niño , Preescolar , Diagnóstico Diferencial , Elasticidad , Femenino , Humanos , Riñón/diagnóstico por imagen , Riñón/fisiopatología , Masculino , Estudios Prospectivos , Sensibilidad y EspecificidadRESUMEN
OBJECTIVES: Our aims in this study were as follows: (1) to determine the cutoff value that can distinguish between advanced liver fibrosis and normal liver tissue for two different elastographic techniques; (2) to determine the cutoff value that can distinguish mild liver fibrosis from normal liver tissue for the techniques; and (3) to assess tissue stiffness in nonalcoholic fatty liver disease (NAFLD). METHODS: Seventy-five patients assessed for liver biopsy on the same day were evaluated by point shear wave elastography. Thirty-one healthy children and 11 children with NAFLD were also evaluated. A 9L4 transducer with Virtual Touch quantification (VTQ) and Virtual Touch imaging and quantification (VTIQ) modes (Siemens Medical Solutions, Mountain View, CA) was used for quantification. RESULTS: The shear wave speed of the patients with NAFLD was higher than that of the control group. The only predictive factor for VTQ and VTIQ was the histologic fibrosis score (model-adjusted R2 = 0.56 for VTQ and 0.75 for VTIQ). Shear wave speed cutoffs were 1.67 m/s for VTQ and 1.56 m/s for VTIQ in detecting fibrosis or inflammation and 2.09 m/s for VTQ and 2.17 m/s for VTIQ in discriminating children with low and high histologic liver fibrosis scores. CONCLUSIONS: The VTQ and VTIQ values reveal high-grade histopathologic fibrosis and have high success rates when distinguishing high- from low-grade fibrosis. However, they have limited success rates when differentiating low-grade fibrosis from normal liver tissue.
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Diagnóstico por Imagen de Elasticidad/métodos , Cirrosis Hepática/diagnóstico por imagen , Cirrosis Hepática/patología , Enfermedad del Hígado Graso no Alcohólico/diagnóstico por imagen , Enfermedad del Hígado Graso no Alcohólico/patología , Biopsia , Niño , Preescolar , Femenino , Humanos , Hígado/diagnóstico por imagen , Hígado/patología , Masculino , Estudios Prospectivos , Reproducibilidad de los Resultados , Índice de Severidad de la EnfermedadRESUMEN
Osteopetrosis is a hereditary form of sclerosing bone dysplasia with various radiological and clinical presentations. The autosomal recessive type, also known as malignant osteopetrosis, is the most severe type, with the early onset of manifestations. A 5-month-old infant was admitted to our hospital with recurrent respiratory tract infections. Chest X-ray and skeletal survey revealed the classic findings of osteopetrosis, including diffuse osteosclerosis and bone within a bone appearance. At follow-up, the patient presented with, thickened calvarium, multiple prominent encephaloceles, and dural calcifications leading to the intracranial clinical manifestations with bilateral hearing and sight loss. Autosomal recessive osteopetrosis is one of the causes of encephaloceles and this finding may become dramatic if untreated.
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Encefalocele/complicaciones , Encefalocele/diagnóstico por imagen , Osteopetrosis/complicaciones , Osteopetrosis/diagnóstico por imagen , Encéfalo/diagnóstico por imagen , Humanos , Lactante , Imagen por Resonancia Magnética , Costillas/diagnóstico por imagen , Columna Vertebral/diagnóstico por imagen , Tomografía Computarizada por Rayos XRESUMEN
PURPOSE: Well-differentiated ectopic cerebellar tissue is extremely rare, with only 12 cases in the literature. Here, we describe a unique case of radiologically proven ectopic cerebellar tissue, using diffusion tensor tractography (DTT) and MR spectroscopy (MRS) findings, in a 6-day-old newborn. CASE: A 6-day-old newborn who had previously a fetal MRI referred to our department with the suspicion of an arachnoid cyst of the posterior fossa. Including the central nervous system, all of his physical examination tests were normal. Postnatal transcranial ultrasound (US) imaging and brain MRI also revealed a large posterior fossa cyst and a solid mass nearby the cerebellar tissue. The tissue showed a small connection and isointense signal with the cerebellum. Upon DTT, both the cerebellum and nearby solid tissue represented the same FA values. Tractographic studies showed a connection with fibers extending along the left cerebellar hemisphere from this tissue. The single voxel MRS of this solid tissue also revealed high choline (Cho) and a smaller N-acetylaspartate (NAA) concentration similar to that of the normal newborn cerebellum. CONCLUSION: Ectopic cerebellar tissue can be characterized by advanced neuroimaging tools, like DTT and MRS, which provide information about brain metabolite concentrations and the microstructural integrity. In this way, unnecessary surgery can be avoided in order to obtain a histopathological diagnosis.
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Quistes Aracnoideos/metabolismo , Quistes Aracnoideos/patología , Cerebelo/metabolismo , Cerebelo/patología , Coristoma/patología , Fosa Craneal Posterior/patología , Ácido Aspártico/análogos & derivados , Ácido Aspártico/metabolismo , Colina/metabolismo , Imagen de Difusión Tensora , Humanos , Recién Nacido , Espectroscopía de Resonancia Magnética , MasculinoRESUMEN
Osteopoikilosis (OPK) is a benign, rare, asymptomatic osteosclerotic bone dysplasia which is inherited as an autosomal dominant trait. It may develop during childhood and persists throughout life. Diagnosis is usually made incidentally according to radiographs. It may be confused with other conditions, such as osteoblastic metastases. OPK must be in differential diagnosis when multiple, small, well-defined, symmetric bone lesions are identified on plain radiograph to avoid alarming the patient with more serious disease and misdiagnosis. Bone scintigraphy is normal and useful for differential diagnosis. Although it is usually asymptomatic, effusion and joint pain can be found in 15-20 % of patients. In this study, we report a 17-year-old boy who suffers from low back pain and has a mother with similar involvement. He was diagnosed OPK radiologically. We also review the clinical manifestation, pathophysiology, diagnosis and treatment of OPK in this paper.
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Huesos/diagnóstico por imagen , Osteopoiquilosis/diagnóstico por imagen , Adolescente , Adulto , Femenino , Humanos , Masculino , Osteopoiquilosis/terapia , Manejo del Dolor/métodos , Cintigrafía , Tomografía Computarizada por Rayos XRESUMEN
Herlyn-Werner-Wunderlich (HWW) syndrome is a rare müllerian duct anomaly with uterus didelphys, unilateral obstructed hemivagina, and ipsilateral renal agenesis. Patients with this syndrome generally present after menarche with pelvic pain and mass and, rarely, primary infertility in later years. Strong suspicion and knowledge of this syndrome are mandatory for an accurate diagnosis. A 14-year-old female patient presented with acute retention of urine and abdominopelvic pain. Her condition was diagnosed with the use ultrasonography and magnetic resonance imaging as a case of HWW syndrome. She was treated with vaginal hemiseptal resection. The HWW syndrome should be considered among the differential diagnoses in girls with renal anomalies presenting with pelvic mass, symptoms of acute abdominal pain, and acute urinary retention.
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Dolor Abdominal/etiología , Anomalías Múltiples , Dolor Agudo/etiología , Conductos Paramesonéfricos/anomalías , Anomalías Urogenitales/complicaciones , Útero/anomalías , Vagina/anomalías , Dolor Abdominal/diagnóstico , Dolor Agudo/diagnóstico , Adolescente , Diagnóstico Diferencial , Femenino , Humanos , Imagen por Resonancia Magnética , Síndrome , Anomalías Urogenitales/diagnósticoRESUMEN
Acute right lower quadrant pain is a common, but nonspecific presenting symptom of a wide variety of diseases in children. Sonography (US) can play a significant role in the accurate and early diagnosis of right lower quadrant pain. In this article, we report a case of small bowel obstruction due to intestinal ascariasis diagnosed at bedside US and confirmed by MRI and describe a new US sign of intestinal ascariasis.
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Ascariasis/diagnóstico por imagen , Obstrucción Intestinal/diagnóstico por imagen , Intestino Delgado/diagnóstico por imagen , Dolor Abdominal , Adolescente , Albendazol/uso terapéutico , Antihelmínticos/uso terapéutico , Apendicitis/diagnóstico , Ascariasis/complicaciones , Ascariasis/tratamiento farmacológico , Diagnóstico Diferencial , Femenino , Humanos , Obstrucción Intestinal/etiología , Obstrucción Intestinal/parasitología , Intestino Delgado/parasitología , UltrasonografíaRESUMEN
We report the case of a 7-year-old boy who presented with a 1-month history of neck pain, left-sided torticollis, and no neurological deficit. Computed tomography and magnetic resonance imaging revealed an expansile lesion in the axis, with epidural and prevertebral soft tissue components. Histopathologic examination of the biopsy specimen revealed primary vertebral Ewing sarcoma. This is the first case of primary vertebral Ewing sarcoma that has presented with torticollis. It is essential for physicians to be familiar with this condition and the associated imaging findings because early diagnosis of such cases is the key to better prognosis.
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Vértebra Cervical Axis , Dolor de Cuello/etiología , Sarcoma de Ewing/complicaciones , Neoplasias de la Columna Vertebral/complicaciones , Tortícolis/etiología , Vértebra Cervical Axis/diagnóstico por imagen , Vértebra Cervical Axis/patología , Biopsia , Niño , Diagnóstico Diferencial , Fiebre/etiología , Humanos , Imagen por Resonancia Magnética , Masculino , Imagen Multimodal , Sarcoma de Ewing/diagnóstico , Sarcoma de Ewing/patología , Sarcoma de Ewing/radioterapia , Compresión de la Médula Espinal/etiología , Neoplasias de la Columna Vertebral/diagnóstico , Neoplasias de la Columna Vertebral/patología , Neoplasias de la Columna Vertebral/radioterapia , Tomografía Computarizada por Rayos XRESUMEN
Honeycomb gallbladder is a rare congenital malformation of the gallbladder. In some cases, it may be asymptomatic, whereas in others, it may lead to symptoms consistent with biliary colic even in the absence of cholelithiasis. We present the clinical and imaging findings of a case of a 10-year-old boy who was admitted to the emergency department with right upper quadrant pain. Ultrasonography and magnetic resonance imaging showed a honeycomb gallbladder. Honeycomb gallbladder is safely diagnosed with ultrasonography, which should be part of the investigation of patients with right upper quadrant pain in the emergency department.
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Cólico/etiología , Urgencias Médicas , Vesícula Biliar/anomalías , Niño , Pancreatocolangiografía por Resonancia Magnética , Colecistitis/diagnóstico , Diagnóstico Diferencial , Errores Diagnósticos , Vesícula Biliar/diagnóstico por imagen , Vesícula Biliar/patología , Humanos , Obstrucción Intestinal/diagnóstico , Masculino , Náusea/etiología , Ultrasonografía , Espera VigilanteAsunto(s)
Imagen de Difusión Tensora , Síndrome de Down/complicaciones , Parálisis Facial/complicaciones , Paresia/complicaciones , Convulsiones/complicaciones , Adolescente , Encéfalo/diagnóstico por imagen , Encéfalo/patología , Síndrome de Down/diagnóstico por imagen , Síndrome de Down/patología , Parálisis Facial/diagnóstico por imagen , Parálisis Facial/patología , Humanos , Masculino , Paresia/diagnóstico por imagen , Paresia/patología , Convulsiones/diagnóstico por imagen , Convulsiones/patología , Síndrome , Sustancia Blanca/diagnóstico por imagen , Sustancia Blanca/patologíaRESUMEN
ABSTRACT: The aim of this study was to evaluate the feasibility of quantitative analysis of muscle stiffness in the rectus femoris muscle (RFM) by acoustic radiation force impulse (ARFI) ultrasound elastography in children with chronic kidney disease (CKD). Twenty-three children with CKD and 22 healthy children participated in the study in our radiology department. The strength of each CKD group and healthy group participants' tight extensors was assessed by a physiatrist using a handheld dynamometer. Acoustic radiation force impulse was used to measure the shear wave velocities (SWVs) of the RFM. The mean SWV value of the RFM correlated with the strengths of the tight extensors in the CKD and healthy groups. The mean ± SD SWV values of the RFM in the CKD group for the right (n = 23) and left sides (n = 21) were 1.23 ± 0.25 and 1.26 ± 0.30 m/s, respectively. The mean ± SD SWV values of the RFM in the healthy group for the right (n = 23) and left sides (n = 21) were 1.62 ± 0.33 and 1.65 ± 0.35 m/s, respectively. The SWV of the RFM significantly decreased in the patients with CKD when compared with controls (P < 0.001). The SWV values were not correlated to the handheld dynamometry. The interobserver agreement expressed as the interclass correlation coefficient was 0.65 (95% confidence interval, 0.33-0.84; P < 0.001). The acoustic radiation force impulse demonstrates a difference in RFM muscle stiffness between the CKD and healthy groups. This method is a feasible imaging method for the noninvasive assessment of muscle weakness in children with CKD.
RESUMEN
BACKGROUND: Infantile choriocarcinoma is usually fatal without appropriate treatment. CASE CHARACTERISTICS: A 3-month-old boy who presented with respiratory distress, hepatomegaly, amemia and bilateral nodular lesions on chest X-ray. OBSERVATION: Fine-needle liver aspiration revealed necrotic tumour cells. The serum b-hCG level was very high (2057 mIU/L), supporting a diagnosis of infantile choriocarcinoma of the liver. Surgical resection after cisplatin-based multiagent chemotherapy afforded successful remission. MESSAGE: Early treatment of infantile choriocarcinoma can yield a successful outcome.
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Coriocarcinoma/secundario , Neoplasias Hepáticas/patología , Neoplasias Pulmonares/secundario , Coriocarcinoma/diagnóstico , Coriocarcinoma/terapia , Humanos , Lactante , Neoplasias Hepáticas/diagnóstico , Neoplasias Hepáticas/terapia , Neoplasias Pulmonares/diagnóstico , Neoplasias Pulmonares/terapia , MasculinoRESUMEN
Epiploic appendagitis, caused by inflammation of small adipose tissue on the colon wall, is a rare cause of acute abdominal pain in the pediatric population. It is nearly impossible to establish a specific diagnosis merely on the basis of clinical findings; thus, radiological evaluation is always necessary. In this report, we present the cases of three children with abdominal pain who were diagnosed with epiploic appendagitis. All cases were successfully treated with conservative management.
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Parathyroid glands are endocrine glands that secrete parathyroid hormone (PTH) and regulate calcium-phosphor metabolism. The overexpression of PTH is called hyperparathyroidism (HPT), and is classified as primary, secondary, and tertiary. Primer HPT (PHPT) is the most common cause of parathyroid adenomas (80%-85%). Development of juvenile PHPT during adolescence is rare. The incidence of bone lesions in all age groups is reported to be 10%-20% in the patients with PHPT, and 5% in patients with juvenile PHPT. In patients with bone lesions, regression occurs in lesions after parathyroidectomy. In this case report, we aimed to present the imaging findings of long bones and left fifth metacarpal bone multiple Brown tumors, which is a rare presentation of parathyroid adenoma in adolescent patient and regression after parathyroidectomy.